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Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

2015· article· en· W1951340543 on OpenAlexafffund
Rita Guerreiro, Valentina Escott‐Price, Lee Darwent, Laura Parkkinen, Olaf Ansorge, Dena G. Hernandez, Michael A. Nalls, Lorraine N. Clark, Lawrence S. Honig, Karen Marder, Wiesje M. van der Flier, Henne Holstege, Eva Louwersheimer, Afina W. Lemstra, Philip Scheltens, Ekaterina Rogaeva, Peter St George‐Hyslop, Elisabet Londos, Henrik Zetterberg, Sara Ortega‐Cubero, Pau Pástor, Tanis J. Ferman, Caroline Graff, Owen A. Ross, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Walter Maetzler, Daniela Berg, Claire Troakes, Safa Al‐Sarraj, Tammaryn Lashley, Yaroslau Compta, Tamás Révész, Andrew J. Lees, Nigel J. Cairns, Glenda M. Halliday, David Mann, Stuart Pickering‐Brown, John Powell, Katie Lunnon, Michelle K. Lupton, Dennis W. Dickson, John Hardy, Andrew Singleton, José Brás

Bibliographic record

VenueNeurobiology of Aging · 2015
Typearticle
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsUniversity of Toronto
FundersNational Institute of Environmental Health SciencesNational Institute of Neurological Disorders and StrokeNIHR Oxford Biomedical Research CentreNational Health and Medical Research CouncilNational Center for Advancing Translational SciencesMedical Research CouncilUniversity College London Hospitals NHS Foundation TrustUniversity of New South WalesAlzheimer's SocietyAlzheimer SocietyUniversity of SheffieldKing's College LondonMinisterio de Ciencia e InnovaciónNational Institute on AgingNational Institute for Health and Care ResearchMayo ClinicStichting DioraphteVanderbilt University Medical CenterKing’s College Hospital CharityUniversity of DundeeNeuroscience Research AustraliaWellcome TrustParkinson's UKWellcomeSouth London and Maudsley NHS Foundation TrustCanadian Institutes of Health ResearchParkinson's Disease FoundationMichael J. Fox Foundation for Parkinson's ResearchNational Institutes of HealthU.S. Department of Health and Human Services
KeywordsDementia with Lewy bodiesDiseaseParkinson's diseaseDementiaGenome-wide association studyLewy bodyLocus (genetics)MedicineAlzheimer's diseaseNeurosciencePathologyBiologyGeneticsGenotypeSingle-nucleotide polymorphismGene

Abstract

fetched live from OpenAlex

The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determinants of risk. Because of these overlapping features, diagnosing DLB is challenging and has clinical implications since some therapeutic agents that are applicable in other diseases have adverse effects in DLB. Having shown that DLB shares some genetic risk with PD and AD, we have now quantified the amount of sharing through the application of genetic correlation estimates, and show that, from a purely genetic perspective, and excluding the strong association at the APOE locus, DLB is equally correlated to AD and PD.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0020.002
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.021
GPT teacher head0.251
Teacher spread0.230 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations90
Published2015
Admission routes2
Has abstractyes

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